Health care utilization and behavior changes after workplace genetic testing at a large US health care system.

PURPOSE: This study explored employee health behavior changes and health care utilization after workplace genetic testing (wGT). Wellness-program-associated wGT seeks to improve employee health, but the related health implications are unknown. METHODS: Employees of a large US health care system offering wGT (cancer, heart disease, and pharmacogenomics [PGx]) were sent electronic surveys. Self-reported data from those who received test results were analyzed. Descriptive statistics characterized responses, whereas logistic regression analyses explored correlates of responses to wGT. RESULTS: 53.9% (n = 418/776) of respondents (88.3% female, mean age = 44 years) reported receiving wGT results. 12.0% (n = 48/399) received results indicating increased risk (IR) of cancer, 9.5% (n = 38/398) had IR of heart disease, and 31.4% (n = 125/398) received informative PGx results. IR results for cancer and/or heart disease (n = 67) were associated with health behavior changes (adjusted odds ratio: 3.23; 95% CI 1.75, 6.13; P < .001) and health care utilization (adjusted odds ratio: 8.60; 95% CI 4.43, 17.5; P < .001). Informative PGx results (n = 125) were associated with medication changes (PGx-informative: 15.2%; PGx-uninformative: 4.8%; P = .002). CONCLUSION: This study explored employee responses to wGT, contributing to the understanding of the ethical and social implications of wGT. Receiving IR results from wGT may promote health behavior changes and health care utilization in employees.

Clinical models of telehealth in genetics: A regional telegenetics landscape.

The use of live video consultations in genetics has been shown to improve patient access with high satisfaction; however, little is known about the current landscape of clinical telehealth models in the field of genetics (i.e., telegenetics). This survey aimed to address that gap across seven states and the District of Columbia. Among 51 self-defined telegenetics programs responding to an online survey, 32 currently utilized live videoconferencing as at least one of their technologies (i.e., were "video-capable"). Analysis of this subgroup revealed that medical institutions were the most common program setting, and prenatal and cancer services were the most common sub-specialty. Forty-seven percent of these programs reported billing insurance for patient care. When exploring measures of patient access among these programs, 56% had a wait time of under 2 weeks, 25% saw more than 50 patients per month, 50% estimated their geographic reach at over 200 miles, and 59% were able to provide remote telegenetics consultations to patients' homes. Professional licensure was reported as the biggest barrier, and patient access and convenience were reported as the largest benefit and success. Among the 19 remaining programs, eight currently active programs exclusively used telephone technology; these were less likely to have a geneticist (p = 0.01), had a shorter wait time (p = 0.04), and had been established for a longer time (p = 0.02) when compared to video-capable programs. Further, two currently active programs indicated the use of store-and-forward telehealth. Finally, nine programs were currently planning their programs, with a focus on video-capable technologies and more varied patient specialties. We observed a diverse landscape of telehealth models being utilized to provide genetic services, and the data demonstrated that these programs are focused on enhancing patient access. Our query about telegenetics drew responses from programs that were not using live videoconferencing technology models, which prompts further exploration, and challenges us to develop consensus around the meaning of "telegenetics." Similarly, our data suggest a need for continued research to assess the equivalency, accessibility, and role of telephone consultations across genetic services. While a multitude of policy factors influence which service delivery models are utilized, further research on these varied approaches, and their associated patient outcomes, is also needed to inform program development.

Voluntary workplace genomic testing: wellness benefit or Pandora's box?

Consumer interest in genetic and genomic testing is growing rapidly, with more than 26 million Americans having purchased direct-to-consumer genetic testing services. Capitalizing on the increasing comfort of consumers with genetic testing outside the clinical environment, commercial vendors are expanding their customer base by marketing genetic and genomic testing services, including testing for pharmacogenomic and pathogenic variants, to employers for inclusion in workplace wellness programs. We describe the appeal of voluntary workplace genomic testing (wGT) to employers and employees, how the ethical, legal, and social implications literature has approached the issue of genetic testing in the workplace in the past, and outline the relevant legal landscape. Given that we are in the early stages of development of the wGT market, now is the time to identify the critical interests and concerns of employees and employers, so that governance can develop and evolve along with the wGT market, rather than behind it, and be based on data, rather than speculative hopes and fears.

Employees' Views and Ethical, Legal, and Social Implications Assessment of Voluntary Workplace Genomic Testing.

Employers have begun to offer voluntary workplace genomic testing (wGT) as part of employee wellness benefit programs, but few empirical studies have examined the ethical, legal, and social implications (ELSI) of wGT. To better understand employee perspectives on wGT, employees were surveyed at a large biomedical research institution. Survey respondents were presented with three hypothetical scenarios for accessing health-related genomic testing: via (1) their doctor; (2) their workplace; and 3) a commercial direct-to-consumer (DTC) genetic testing company. Overall, 594 employees (28%) responded to the survey. Respondents indicated a preference for genomic testing in the workplace setting (70%; 95% CI 66-74%), followed by doctor's office (54%; 95% CI 50-58%), and DTC testing (20%; 95% CI 17-24%). Prior to participating in wGT, respondents wanted to know about confidentiality of test results (79%), existence of relevant laws and policies (70%), and privacy protection (64%). Across scenarios, 92% of respondents preferred to view the test results with a genetic counselor. These preliminary results suggest that many employees are interested and even prefer genetic testing in the workplace and would prefer testing with support from genetic health professionals. Confirmation in more diverse employer settings will be needed to generalize such findings.

Family health history and genetic services-the East Baltimore community stakeholder interview project.

Discussion of family health history (FH) has the potential to be a communication tool within families and with health providers to stimulate health promotion related to many chronic conditions, including those with genetic implications for prevention, screening, diagnosis, treatment. Diverse communities with disparities in health outcomes may require different approaches to engage individuals and families in the evolving areas of genetic risk communication, assessment, and services. This work was a partnership of a local urban agency and academic genetics professionals to increase understanding of community concerns and preferences related to FH and genetic awareness. Thirty community stakeholders in the East Baltimore area participated in structured interviews conducted by community members. We identified key themes on family health history FH, risk assessment, and genetic services. Forty-three percent (18/27) of community stakeholders thought families in East Baltimore did not discuss family health history FH with doctors. Stakeholders recognized the benefits and challenges of potential actions based on genetic risk assessment and the multiple competing priorities of families. FH awareness with community engagement and genetics education were the major needs identified by the participants. Research undertaken in active collaboration with community partners can provide enhanced consumer perspectives on the importance of family health history and its potential connections to health promotion and prevention activities.

The Global State of the Genetic Counseling Profession.

The profession of genetic counseling (also called genetic counselling in many countries) began nearly 50 years ago in the United States, and has grown internationally in the past 30 years. While there have been many papers describing the profession of genetic counseling in individual countries or regions, data remains incomplete and has been published in diverse journals with limited access. As a result of the 2016 Transnational Alliance of Genetic Counseling (TAGC) conference in Barcelona, Spain, and the 2017 World Congress of Genetic Counselling in the UK, we endeavor to describe as fully as possible the global state of genetic counseling as a profession. We estimate that in 2018 there are nearly 7000 genetic counselors with the profession established or developing in no less than 28 countries.

Brain metabolite alterations in young adults at familial high risk for schizophrenia using proton magnetic resonance spectroscopy.

BACKGROUND: Proton magnetic resonance spectroscopy ((1)H MRS) enables in-vivo measurement of several relevant brain metabolites and has provided evidence of a range of neurochemical abnormalities in schizophrenia, especially in glutamate and N-acetyl-aspartate (NAA). While individuals at high familial risk for schizophrenia (HR) exhibit some neurobiological findings observed in the disorder, (1)H MRS findings and their clinical correlates are not well characterized in this population. METHODS: We compared 23 adolescent and young adult offspring of schizophrenia patients with 24 age- and sex-matched healthy controls using (1)H MRS. We acquired multi-voxel, short TE (1)H MRS measurements at 1.5T and obtained metabolite concentrations of N-acetyl-aspartate (NAA), combined glutamate and glutamine (Glu+Gln) and choline-containing compounds (GPC+PC) for the left and right thalamus, anterior cingulate gyrus, and caudate. We also assessed the relationship between regional metabolite levels, clinical measures and brain volume in a subset of 16 high-risk and 15 control subjects. RESULTS: Compared to healthy controls, high-risk subjects showed reductions in NAA levels in all three regions (thalamus, caudate, and anterior cingulate cortex), increases in Glu+Gln in the thalamus and caudate, and increases in GPC+PC in the anterior cingulate. In HR, thalamic Glu+Gln concentration was positively correlated and thalamic NAA inversely correlated with measures of schizotypy. Anterior cingulate GPC+PC and caudate Glu+Gln were significantly correlated with attenuated psychotic symptom severity. Anterior cingulate NAA was correlated with executive function. CONCLUSIONS: Our data suggest the occurrence of metabolic alterations in young relatives of schizophrenia patients similar to those seen in patients with established illness. The observed correlations with cognitive deficits and psychosis-related psychopathology suggest that these metabolic measures may have value as biomarkers of risk for schizophrenia.